Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Raphael Schiffmann, Marjo S. van der Knaap · Neurology · 2009 · 541 citations · Full text

The Assembly Pathway of Mitochondrial Respiratory Chain Complex I

Sergio Guerrero‐Castillo, Fabian Baertling, Daniel Kownatzki et al. · Cell Metabolism · 2016 · 421 citations · Full text

Assembly Pathway, Mitochondrial Biogenesis, Mitochondrial Function +6

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics · 2010 · 359 citations · Full text

Identifies Mutations, Human Complex, Sequencing +11

Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I

Alex D. Sheftel, Oliver Stehling, Antonio J. Pierik et al. · Molecular and Cellular Biology · 2009 · 195 citations · Full text

Iron Metabolism, Molecular Biology, Chemical Biology +20

Mitochondrial complex I-linked disease

Richard J. Rodenburg · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2016 · 187 citations

Mitochondrial Myopathy, Mitochondrial Biogenesis, Mitochondrial Function +3